Canonical Allele Identifier: CA373281907

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648349C>G (hg19) ; chr9:g.34648352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648352C>G , CM000671.2:g.34648352C>G	GRCh38
NC_000009.11:g.34648349C>G , CM000671.1:g.34648349C>G	GRCh37
NC_000009.10:g.34638349C>G	NCBI36
NG_009029.1:g.6715C>G
NG_028966.1:g.1168C>G
NG_009029.2:g.6764C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*171C>G	ENSP00000509954.1:n.*171C>G
ENST00000378842.8:c.583C>G MANE Select	ENSP00000368119.4:p.Leu195Val
ENST00000378842.7:c.583C>G	ENSP00000368119.3:p.Leu195Val
ENST00000450095.6:c.256C>G	ENSP00000401956.2:p.Leu86Val
ENST00000472111.5:n.839C>G
ENST00000473506.6:c.*171C>G	ENSP00000432839.2:n.*171C>G
ENST00000473529.5:n.742C>G
ENST00000485531.1:n.1177C>G
ENST00000487381.5:n.968C>G
ENST00000489643.6:n.358C>G
ENST00000554085.5:c.*327C>G	ENSP00000450419.1:n.*327C>G
ENST00000554139.5:n.829C>G
ENST00000554550.5:c.*203C>G	ENSP00000451435.1:n.*203C>G
ENST00000554638.5:n.1055C>G
ENST00000554897.5:c.*270C>G	ENSP00000450942.1:n.*270C>G
ENST00000554944.5:n.932C>G
ENST00000555020.5:n.739C>G
ENST00000555086.5:n.587C>G
ENST00000555214.5:n.404C>G
ENST00000556244.1:c.570C>G
ENST00000556278.1:c.328C>G	ENSP00000451792.1:p.Leu110Val
ENST00000556494.5:n.704C>G
ENST00000557706.5:n.1145C>G
NM_000155.3:c.583C>G	NP_000146.2:p.Leu195Val
NM_001258332.1:c.256C>G	NP_001245261.1:p.Leu86Val
NM_000155.4:c.583C>G MANE Select	NP_000146.2:p.Leu195Val
NM_001258332.2:c.256C>G	NP_001245261.1:p.Leu86Val